Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Cplx3'

275768

Institutional Source

Beutler Lab

Gene Symbol

Cplx3

Ensembl Gene

ENSMUSG00000039714

Gene Name

complexin 3

Synonyms

CpxIII, Lman1l

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3848 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

57507275-57513564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57515600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 425 (A425V)

Ref Sequence

ENSEMBL: ENSMUSP00000091352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044937] [ENSMUST00000045068] [ENSMUST00000093832] [ENSMUST00000215487] [ENSMUST00000217015]

AlphaFold

Q8R1B5

Predicted Effect

probably benign
Transcript: ENSMUST00000044937

SMART Domains

Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	1.2e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045068

SMART Domains

Protein: ENSMUSP00000046748
Gene: ENSMUSG00000039714

Domain	Start	End	E-Value	Type
Pfam:Synaphin	1	139	5.7e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093832
AA Change: A425V

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271
AA Change: A425V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	2.7e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC
transmembrane domain	439	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215487

Predicted Effect

probably benign
Transcript: ENSMUST00000217015

Meta Mutation Damage Score

0.1348

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are fertile, viable and exhibit normal synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Cplx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Cplx3	APN	9	57,527,847 (GRCm39)	missense	probably damaging	1.00
IGL02268:Cplx3	APN	9	57,509,741 (GRCm39)	missense	possibly damaging	0.81
IGL03164:Cplx3	APN	9	57,517,278 (GRCm39)	missense	probably damaging	0.99
IGL03226:Cplx3	APN	9	57,517,290 (GRCm39)	missense	probably benign	0.43
PIT4283001:Cplx3	UTSW	9	57,523,359 (GRCm39)	missense	probably damaging	1.00
R0555:Cplx3	UTSW	9	57,521,384 (GRCm39)	missense	probably benign	0.15
R0601:Cplx3	UTSW	9	57,513,357 (GRCm39)	missense	possibly damaging	0.77
R1168:Cplx3	UTSW	9	57,515,595 (GRCm39)	missense	probably benign	0.00
R1169:Cplx3	UTSW	9	57,517,278 (GRCm39)	missense	probably damaging	0.99
R1591:Cplx3	UTSW	9	57,523,085 (GRCm39)	missense	probably benign	0.30
R2289:Cplx3	UTSW	9	57,520,941 (GRCm39)	missense	possibly damaging	0.76
R4685:Cplx3	UTSW	9	57,516,483 (GRCm39)	missense	probably damaging	0.98
R5170:Cplx3	UTSW	9	57,522,902 (GRCm39)	nonsense	probably null
R5309:Cplx3	UTSW	9	57,518,360 (GRCm39)	missense	probably damaging	0.98
R5312:Cplx3	UTSW	9	57,518,360 (GRCm39)	missense	probably damaging	0.98
R5639:Cplx3	UTSW	9	57,519,149 (GRCm39)	missense	probably benign	0.24
R5655:Cplx3	UTSW	9	57,523,258 (GRCm39)	missense	probably damaging	1.00
R5905:Cplx3	UTSW	9	57,515,546 (GRCm39)	missense	probably damaging	1.00
R6011:Cplx3	UTSW	9	57,523,038 (GRCm39)	missense	probably damaging	1.00
R6028:Cplx3	UTSW	9	57,515,546 (GRCm39)	missense	probably damaging	1.00
R6035:Cplx3	UTSW	9	57,519,030 (GRCm39)	critical splice donor site	probably null
R6035:Cplx3	UTSW	9	57,519,030 (GRCm39)	critical splice donor site	probably null
R6113:Cplx3	UTSW	9	57,509,723 (GRCm39)	missense	probably damaging	1.00
R6250:Cplx3	UTSW	9	57,522,907 (GRCm39)	missense	probably benign	0.00
R6488:Cplx3	UTSW	9	57,527,926 (GRCm39)	missense	possibly damaging	0.73
R6489:Cplx3	UTSW	9	57,521,009 (GRCm39)	splice site	probably null
R6720:Cplx3	UTSW	9	57,521,355 (GRCm39)	splice site	probably null
R7000:Cplx3	UTSW	9	57,523,231 (GRCm39)	missense	probably benign	0.27
R7139:Cplx3	UTSW	9	57,522,879 (GRCm39)	missense	probably benign	0.37
R8822:Cplx3	UTSW	9	57,514,471 (GRCm39)	missense	probably benign	0.00
R9794:Cplx3	UTSW	9	57,509,522 (GRCm39)	makesense	probably null
R9800:Cplx3	UTSW	9	57,523,060 (GRCm39)	missense	probably damaging	0.99
X0057:Cplx3	UTSW	9	57,523,240 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCAGAGTCCCCACTTTCAAG -3'
(R):5'- AGACTGGAAGATGCAGCTTTGG -3'

Sequencing Primer
(F):5'- CCACTTTCAAGTTCGACAGTTGTAG -3'
(R):5'- AGATGCAGCTTTGGACACTGC -3'

Posted On

2015-04-06